Canonical Allele Identifier: CA2673551213

Gene: NIPBL

Linked Data

• gnomAD v4: 5-37015975-TAGAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37015979_37015982del , CM000667.2:g.37015979_37015982del	GRCh38
NC_000005.9:g.37016081_37016084del , CM000667.1:g.37016081_37016084del	GRCh37
NC_000005.8:g.37051838_37051841del	NCBI36
NG_006987.1:g.144097_144100del
NG_006987.2:g.144097_144100del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.4644-59_4644-56del MANE Select	ENSP00000282516.8:n.4644-59_4644-56del
ENST00000652901.1:c.4644-59_4644-56del	ENSP00000499536.1:n.4644-59_4644-56del
ENST00000282516.12:c.4644-59_4644-56del	ENSP00000282516.8:n.4644-59_4644-56del
ENST00000448238.2:c.4644-59_4644-56del	ENSP00000406266.2:n.4644-59_4644-56del
ENST00000621733.1:c.1-48599_1-48596del	ENSP00000480694.1:n.1-48599_1-48596del
NM_015384.4:c.4644-59_4644-56del	NP_056199.2:n.4644-59_4644-56del
NM_133433.3:c.4644-59_4644-56del	NP_597677.2:n.4644-59_4644-56del
XM_005248280.2:c.4644-59_4644-56del	XP_005248337.1:n.4644-59_4644-56del
XM_005248282.3:c.3900-59_3900-56del	XP_005248339.2:n.3900-59_3900-56del
XM_006714467.2:c.4644-59_4644-56del	XP_006714530.1:n.4644-59_4644-56del
XM_006714468.1:c.4446-59_4446-56del	XP_006714531.1:n.4446-59_4446-56del
XM_011514014.1:c.4263-59_4263-56del	XP_011512316.1:n.4263-59_4263-56del
XM_011514015.1:c.4644-59_4644-56del	XP_011512317.1:n.4644-59_4644-56del
XM_005248280.3:c.4644-59_4644-56del	XP_005248337.1:n.4644-59_4644-56del
XM_005248282.5:c.3984-59_3984-56del	XP_005248339.3:n.3984-59_3984-56del
XM_006714468.2:c.4446-59_4446-56del	XP_006714531.1:n.4446-59_4446-56del
XM_017009329.1:c.4644-59_4644-56del	XP_016864818.1:n.4644-59_4644-56del
XM_017009330.2:c.3027-59_3027-56del	XP_016864819.1:n.3027-59_3027-56del
XM_017009331.1:c.3018-59_3018-56del	XP_016864820.1:n.3018-59_3018-56del
NM_133433.4:c.4644-59_4644-56del MANE Select	NP_597677.2:n.4644-59_4644-56del
NM_015384.5:c.4644-59_4644-56del	NP_056199.2:n.4644-59_4644-56del